Phenomena and Processes

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

1 entry terms
  • Haploinsufficiencies

MeSH Record

Aspects Covered

5 allowable subheadings

Indexed with the subheadings drug effects, genetics, immunology, physiology, radiation effects.

MeSH Record

History Note

2011

MeSH Record

Previous Indexing

  • Haplotypes (1994-2010)
  • Heterozygote (1996-2010)
  • Loss of Heterozygosity (1994-2010)
  • Mutation (1994-2010)

MeSH Hierarchy

Tree Numbers

  1. G05.365w.590w.029.530w.587w
  2. G05.380w.350w.500w

AMA Style

References

  1. National Library of Medicine. Haploinsufficiency. Medical Subject Headings (MeSH). 2026. Unique ID D057895. http://id.nlm.nih.gov/mesh/2026/D057895
  2. Haploinsufficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Haploinsufficiency
  3. Haploinsufficiency. In: Wikidata. https://www.wikidata.org/wiki/Q852654